Hb A2-Pistoia [δ89(F5)Ser→Asn, HBD: c.269G>a]: a Novel Mutation on the δ-Globin Gene in an Italian Child

Adriana Guastini, Leonardo Rizzi, Fabiano Santoni, Massimo Mogni, Massimo Maffei, Santina Vinci, Giuseppina Barberio, Domenico Coviello, Giovanni Ivaldi

Research output: Contribution to journalArticlepeer-review

Abstract

We describe a new hemoglobin (Hb) variant, found in a 6-year-old Italian male living in Pistoia, Italy. An abnormal pattern compatible with a Hb A2 variant was observed on capillary electrophoresis (CE); direct sequencing revealed a transition at codon 89 of the δ gene (HBD: c.269G>A) changing serine into asparagine. The variant was also identified as Hb A2-Pistoia according to the traditional nomenclature and no other globin defect was present. The observation and description of this Hb A2 variant contributes to the number and heterogeneity of mutations of the δ-globin gene in the Mediterranean Area.

Original languageEnglish
Pages (from-to)368-370
Number of pages3
JournalHemoglobin
Volume44
Issue number5
DOIs
Publication statusPublished - Sep 2020

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